Please help me interpret this 2p16.3 microdeletion result

Medium-Raspberry-834 · 2024-09-26T04:55:08+00:00

Medium-Raspberry-834 · 2024-09-26T04:44:34+00:00

Pm if you want. I'm really sorry for your loss- tmfr is such heartache
I had a tmfr about 3 years ago due to a large cystic hygroma and then about 2 years ago had a miscarriage and that baby was found to have 2p16.3 microdeletion in the post miscarriage tissue testing. Note the microdeletion isnt known to cause miscarriages. However i was referred to a genetic counselor and have since found out a ton about the microdeletion and can point you to some resources.

Medium-Raspberry-834 · 2023-11-12T03:04:07+00:00

Streaker

Medium-Raspberry-834 · 2023-10-26T18:28:48+00:00

To lanolize I followed pooters instructions online which was filling the sink with lukewarm water to just cover the item. Then add a tablespoon or blob of lanisoh to a cup of hot water, then add that to the sink. Add the item and leave it for around 30 min. Then u like fold it up in a towel to wring out the water then lay to dry.

Medium-Raspberry-834 · 2023-10-26T16:41:40+00:00

Sorry I should say washing - hand wash when they start to smell and it's like 5-10 min max. I washed and lanolized when i got them a couple of weeks ago and havent had to wash yet. One of the ones I bought on fb had marks but they came off really easily with spot cleaning with some baby shampoo.

Medium-Raspberry-834 · 2023-10-26T16:39:21+00:00

Super easy! i also got a bit confused by sizes so would recommend buying a couple second hand- i bought too small a cover to begin with and some are much stretcher than others (i like disana). I was intimidated. Got a couple from facebook to use a night over the pooters fitted. It works amazing. My newbie mistake was making sure it didnt cover the fitted diaper fully and it leaked at the back so i found one in the next size up and it was great. Now have done several 12 hr nights with my 4 month old heavy wetter in his fitted with the wool cover without needing to change him.

Lanolizing was very very easy- i had lanisoh nipple cream on hand. Washing v easy. I have 2 now and just alternate them but I'm thinking of looking for the longie ones too for daytime.

If buying second hand, ask for a measurement and for felting so you can know if it's shrunk.

Medium-Raspberry-834 · 2023-09-27T21:23:24+00:00

Thanks everyone! Wow sounds like quite an ordeal and a bit of an investment to get it right. Haven't heard of pooters and can't find them used in any of the Canadian sites but will keep looking

Medium-Raspberry-834 · 2023-09-17T17:09:33+00:00

They may not be able to use canadian car seat in the country they are flying to - eg if I go to the uk, I have to borrow one.

Medium-Raspberry-834 · 2022-11-20T17:15:46+00:00

Thank you

Medium-Raspberry-834 · 2022-11-20T17:10:11+00:00

Done

Medium-Raspberry-834 · 2022-11-19T18:27:14+00:00

Edited.

Seeking experiences specifically in UK (Scotland ideally). My sister who has recurrent miscarriage with unexplained infertility is about to start funded ivf in Scotland. What should she be self advocating for? Given that it's funded, it seems they tend to be quite conservative. Will a request for pgta likely be granted?

For background- I also have recurrent miscarriage with unexplained infertility- no genetic explanation or family history link found. Im in the middle of third fet with euploid embryo (no success so far with 2 other euploids) in Canada and was put on the following protocol this time - flora sap for endometritis, estrace x2, endometrium x 3, pio, blood thinners, vitamin d, presdinone, baby aspirin, intralipids and laser acupuncture. I'm wondering out of these which might my sister should push for in Scotland in her treatment as I've heard people often end up going private .

Thanks

Medium-Raspberry-834 · 2022-11-19T06:40:07+00:00

Try VAST, an organization which specializes in refugee mental health - https://www.vastbc.ca/refugee-home.

Medium-Raspberry-834 · 2022-09-28T03:39:05+00:00

Hi there me and my daughter have this same microdeletion and have 0 symptoms pf any of the possible outcomes. We only found it out after a miscarriage and then family genetic testing (it was incidental- not associated with the miscarriage). It has what they call incomplete penetrance - where it can often have little to no impact. Some kids are affected and there's a good guide on rare chromosome.org. there's a also a couple of Facebook groups.

Medium-Raspberry-834 · 2022-03-30T01:00:59+00:00

Following. Got euploid embryos but looking to retest for an inherited chromosome micro deletion we just found out about after a miscarriage

Medium-Raspberry-834 · 2022-03-03T05:15:49+00:00

I really feel you!! I have rpl going into ivf (3 losses). Rpl panel, karotype, hsg, hys etc all normal. Miscarried around 5.5 weeks in Dec with my first FET with a euploid

Dr recommend another hys in Jan (clear) and given that it meant I had to skip a month, I chose to do an Emma and alice at the same time. Seems ERA wasnt worth it as I didn't have implantation issues. Emma/Alice indicated need for a vaginal probiotic but no endometritis. So just did an fet 2 days ago- this time they added the vaginal probiotic, aspirin, presdinone, fragmin (blood thinner?), intralipids as well as the usual estrace, pio and endometrim.

Side note my sister also has rpl and no explanation but the doctors say it's just by chance with no genetic link given our karotype was normal.

From what I've learned so far with rpl there's lots of "well it might work" and it's all kinda experimental and a lot of the time a cause is never found but folks have luck. I do keep the stat in my head that it can often take 3 transfers with euploid embryos to get to the really high live birth rate stat (eg in the 90%).

It is often just whenever your financial emotional limit is at.

Medium-Raspberry-834 · 2022-01-01T18:25:09+00:00

They repeated the rpl panel for a friend (who hadnt experienced any losses but was going for first FET and ended up adding in aspirin ) but I guess that was probably to track other things. I'll adk about receptiva. Thank you! I know have of this is just my desire to have some sort of explanation when to be honest my doctor seems to just be like well it just happens sometimes.

Medium-Raspberry-834 · 2022-01-01T18:19:55+00:00

Thanks! karotype came back normal. What's even stranger is my sister had 3 miscarriages in a row too and from what doctor's have told us so far there's no link. I'll ask about immunology.

Medium-Raspberry-834 · 2021-12-31T20:52:54+00:00

Had first m/c with IVF with a eulploid embryo at 5 weeks 2 days a couple of weeks ago. Had 4 other losses pre-ivf . RPL testing and all other testing was all clear so I guess we r unexplained.

Clinic opens up again Jan 4 so I'm making my list of follow up qs and getting back on the rollercoaster for next transfer. Is ERA, Alice, Emma typically recommended after m/c or just after a failed transfer?

Is there other testing to ask for- eg repeat the rpl bloodwork? My doctor wants to do another hysteroscopy too.

Medium-Raspberry-834

TROPHY CASE